My research involves investigating new technologies for use in clinical genetic testing. I am also interested in identifying novel genetic variants in families with rare diseases.


Burden of Common Complex Disease Variants in the Exomes of Two Healthy Centenarian Brothers.
Tindale LC, Zeng A, Bretherick KL, Leach S, Thiessen N, Brooks-Wilson AR
DOI: 10.1159/000430462
PubMed: 26066993

Functional characterization of genetic polymorphisms in the H2AFX distal promoter.
Bretherick KL, Leach S, Brooks-Wilson AR
DOI: 10.1016/j.mrfmmm.2014.05.012
PubMed: 25847270

Sex- and subtype-specific analysis of H2AFX polymorphisms in non-Hodgkin lymphoma.
Bretherick KL, Schuetz JM, Morton LM, Purdue MP, Conde L, Gallagher RP, Connors JM, Gascoyne RD, Berry BR, Armstrong B, Kricker A, Vajdic CM, Grulich A, Hjalgrim H, Smedby KE, Skibola CF, Rothman N, Spinelli JJ, Brooks-Wilson AR
DOI: 10.1371/journal.pone.0074619
PubMed: 24069324

Genetic polymorphisms at TIMP3 are associated with survival of adenocarcinoma of the gastroesophageal junction.
Bashash M, Shah A, Hislop G, Treml M, Bretherick K, Janoo-Gilani R, Leach S, Le N, Bajdik C, Brooks-Wilson A
DOI: 10.1371/journal.pone.0059157
PubMed: 23527119

Elevated circulating t(14;18) translocation levels prior to diagnosis of follicular lymphoma.
Bretherick KL, Bu R, Gascoyne RD, Connors JM, Spinelli JJ, Brooks-Wilson AR
DOI: 10.1182/blood-2010-08-304048
PubMed: 21183699

Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage.
Hanna CW, Bretherick KL, Liu CC, Stephenson MD, Robinson WP
DOI: 10.1093/humrep/deq211
PubMed: 20716560

Fertility and aging: do reproductive-aged Canadian women know what they need to know?
Bretherick KL, Fairbrother N, Avila L, Harbord SH, Robinson WP
DOI: 10.1016/j.fertnstert.2009.01.064
PubMed: 19296943

Telomere length and reproductive aging.
Hanna CW, Bretherick KL, Gair JL, Fluker MR, Stephenson MD, Robinson WP
DOI: 10.1093/humrep/dep007
PubMed: 19202142

Estrogen receptor alpha gene polymorphisms are associated with idiopathic premature ovarian failure.
Bretherick KL, Hanna CW, Currie LM, Fluker MR, Hammond GL, Robinson WP
DOI: 10.1016/j.fertnstert.2007.03.008
PubMed: 17706202

Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure.
Bretherick KL, Metzger DL, Chanoine JP, Panagiotopoulos C, Watson SK, Lam WL, Fluker MR, Brown CJ, Robinson WP
DOI: 10.1002/ajmg.a.31679
PubMed: 17431892

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.
Bretherick KL, Fluker MR, Robinson WP
DOI: 10.1007/s00439-005-1326-8
PubMed: 16078053

The association of skewed X chromosome inactivation with aneuploidy in humans.
Bretherick K, Gair J, Robinson WP
DOI: 10.1159/000086898
PubMed: 16192703


Current Projects
My current research focuses on the validation and implementation of new technologies for clinical genetic testing. We are currently evaluating next generation sequencing (NGS) platforms for use in the clinical lab. While traditional genetic testing methods sequence only one gene at a time, NGS technology enables examination of multiple genes, or even all in the genes in the genome, with a single test. This allows fast and accurate diagnosis of conditions where a specific gene defect is suspected and may also be used to identify the genetic causes of conditions when the specific gene is not known. Implementing NGS testing in the Molecular Genetics Lab will allow us to improve and expand the scope of clinical genetic testing available in BC.

Implementation of NGS technologies allows discovery of disease genes in families with rare diseases for which a diagnosis cannot be determined. Identifying genetic causes for rare diseases in families will alleviate uncertainty of diagnosis, provide basis for genetic counselling regarding family planning and may provide insight into therapy and treatment.


2013 Rare Disease Foudnation Microgrant. Castleman Disease

2013 Rare Disease Foundation Microgrant. Hairy Cell Leukemia